Recombinant Human Clarin-1 (CLRN1), partial

中文名稱：

Recombinant Human Clarin-1(CLRN1), partial
貨號：

CSB-YP005583HU1
規(guī)格：
來源：

Yeast
其他：

中文名稱：

Recombinant Human Clarin-1(CLRN1), partial
貨號：

CSB-EP005583HU1
規(guī)格：
來源：

E.coli
其他：

中文名稱：

Recombinant Human Clarin-1(CLRN1), partial
貨號：

CSB-EP005583HU1-B
規(guī)格：
來源：

E.coli
共軛：

Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
其他：

中文名稱：

Recombinant Human Clarin-1(CLRN1), partial
貨號：

CSB-BP005583HU1
規(guī)格：
來源：

Baculovirus
其他：

中文名稱：

Recombinant Human Clarin-1(CLRN1), partial
貨號：

CSB-MP005583HU1
規(guī)格：
來源：

Mammalian cell
其他：

產(chǎn)品詳情
產(chǎn)品評價
相關產(chǎn)品
靶點詳情

產(chǎn)品詳情

純度：

>85% (SDS-PAGE)
基因名：

CLRN1
Uniprot No.：

P58418
別名：

CLRN1; USH3A; Clarin-1; Usher syndrome type-3 protein
種屬：

Homo sapiens (Human)
蛋白長度：

partial
蛋白標簽：

Tag?type?will?be?determined?during?the?manufacturing?process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
產(chǎn)品提供形式：

Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
復溶：

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質(zhì)期：

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
貨期：

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
注意事項：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet ：

Please contact us to get it.

產(chǎn)品評價

靶點詳情

功能：

May have a role in the excitatory ribbon synapse junctions between hair cells and cochlear ganglion cells and presumably also in analogous synapses within the retina.
基因功能參考文獻：
1. Study founds 1 deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon that underlies severe Usher syndrome in a family on the Arabian Peninsula. PMID: 28469144
2. This is the first report of Usher syndrome type 3 with a CLRN1 gene mutation in Asian populations. PMID: 25743179
3. Possible digenism could not be excluded in two families segregating genomic variations in both MYO7A and USH2A, and two families with CLRN1 and USH2A. PMID: 22681893
4. Two novel mutations in the CLRN1 gene, p.R207X and p.I168N, have been found in patients with Usher syndrome type 3. PMID: 23304067
5. High-resolution measures of retinal structure demonstrate patterns of cone loss associated with CLRN1 mutations. PMID: 22964989
6. This study confirmed using a novel mouse model carrying a Clrn1N48K knock-in mutation to investigate the consequence of the missense mutation N48K in mCLRN1 in vivo. PMID: 22787034
7. Here we describe a novel deletion in CLRN1. Our data support previously reported intra familial variability in the clinical features of Usher syndrome type I and III. PMID: 21675857
8. Retinitis pigmentosa-associated mutations p.Pro31Leu and p.Leu154Trp may represent hypomorphic mutations, because substituted amino acids in transmembrane domains remain polar. PMID: 21310491
9. The complexity of the CLRN1 gene and the identification of multiple splice variants may partially explain why mutations in CLRN1 result in substantial variation in clinical phenotype. PMID: 20717163
10. a role for clarin-1 in hair cell and photoreceptor cell synapses, as well as a common pathophysiological pathway for different Usher syndromes PMID: 12080385
11. revised structure of USH3 gene: new translation start site, 5' untranslated region, and transcript encoding 232-amino acid protein; four new disease-causing mutations; identified mouse and rat orthologues, and two human paralogues on chromosomes 4 and 10 PMID: 12145752
12. USH3A and USH2A share patterns of rod and cone dysfunction and retinal structural abnormalities. PMID: 18281613
13. clarin-1 has a role in the regulation and homeostasis of actin filaments PMID: 19423712
14. Part of the pathogenesis of USH3 may be associated with defective intracellular trafficking as well as decreased stability of mutant CLRN1 proteins. PMID: 19753315
15. Mutations in the USH3 gene underlie Usher syndrome type 3. PMID: 11524702
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相關疾病：

Usher syndrome 3A (USH3A); Retinitis pigmentosa 61 (RP61)
亞細胞定位：

Cell membrane; Multi-pass membrane protein.
蛋白家族：

Clarin family
組織特異性：

Widely expressed. Found in the retina.
數(shù)據(jù)庫鏈接：

HGNC: 12605

OMIM: 276902

KEGG: hsa:7401

UniGene: Hs.745448